ArticleBritish journal of anaesthesia2018
Genetic epidemiology of malignant hyperthermia in the UK.
Article in British journal of anaesthesia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways.EBioMedicine · 2026Pooled it
- Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings.Acta anaesthesiologica Scandinavica · 2026Article
- Importance of the early recognition, early suspicion, and early treatment for malignant hyperthermia crisis: two case reports.World journal of emergency medicine · 2026Article
- Considerations for diverse RYR1 variants in malignant hyperthermia susceptible patients: a report of two cases.BMC anesthesiology · 2026Article
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders.European journal of human genetics : EJHG · 2026Review
- Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.Orphanet journal of rare diseases · 2026Article
- Clinical and Genetic Spectrum ofMolecular syndromology · 2026Article
- Mitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.British journal of anaesthesia · 2026Article
- Feeding-Triggered Seizures in a Newborn withJournal of clinical medicine · 2025Article
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- Malignant hyperthermia: patient undergoing limb debridement surgery-a case report.Journal of medical case reports · 2025Article
- Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.Human molecular genetics · 2025Article
- Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics.Pharmacogenetics and genomics · 2025Article
- Malignant hyperthermia during orthognathic surgery: a case report.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Article
- An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.International journal of molecular sciences · 2024Article
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- A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.BMC pediatrics · 2023Review
- Distinct pathophysiological characteristics in developing muscle from patients susceptible to malignant hyperthermia.British journal of anaesthesia · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaps in our understanding of genetic susceptibility to malignant hyperthermia (MH) limit the application and interpretation of genetic diagnosis of the condition. Our aim was to define the prevalence and role of variants in the three genes implicated in MH susceptibility in the largest comprehensively phenotyped MH cohort worldwide.
methodsWe initially included one individual from each positive family tested in the UK MH Unit since 1971 to detect variants in RYR1, CACNA1S, or STAC3. Screening for genetic variants has been ongoing since 1991 and has involved a range of techniques, most recently next generation sequencing. We assessed the pathogenicity of variants using standard guidelines, including family segregation studies. The prevalence of recurrent variants of unknown significance was compared with the prevalence reported in a large database of sequence variants in low-risk populations.
resultsWe have confirmed MH susceptibility in 795 independent families, for 722 of which we have a DNA sample. Potentially pathogenic variants were found in 555 families, with 25 RYR1 and one CACNA1S variants previously unclassified recurrent variants significantly over-represented (P<1×10
conclusionsOur data provide current estimates of the role of variants in RYR1, CACNA1S, and STAC3 in susceptibility to MH in a predominantly white European population.
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